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rs80357568

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;GT) 6 BRCA1 variant considered pathogenic for breast cancer
(TG;TG) 0 common in clinvar
Make rs80357568(-;-)
Make rs80357568(GT;GT)
ReferenceGRCh38 38.1/142
Chromosome17
Position43104164
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357568
ebirs80357568
HLIrs80357568
Exacrs80357568
Varsomers80357568
Maprs80357568
PheGenIrs80357568
hapmaprs80357568
1000 genomesrs80357568
hgdprs80357568
ensemblrs80357568
gopubmedrs80357568
geneviewrs80357568
scholarrs80357568
googlers80357568
pharmgkbrs80357568
gwascentralrs80357568
openSNPrs80357568
23andMers80357568
23andMe allrs80357568
SNP Nexus

SNPshotrs80357568
SNPdbers80357568
MSV3drs80357568
GWAS Ctlgrs80357568
Max Magnitude6
rs80357568, also known as 517delGT, c.398_399delGT and p.Arg133=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357568(;)
Alt rs80357568(;)
Reference rs80357568(TG;TG)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41256180_41256181delCA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048404.2, RCV000112478.1,